@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_head
{
this:
np:hasAssertion
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_assertion
;
np:hasProvenance
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_assertion
a
np:Assertion
.
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_provenance
a
np:Provenance
.
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_assertion
{
miriam-gene:3988
a
ncit:C16612
.
lld:C0043208
a
ncit:C7057
.
dgn-gda:DGN15ff3cd431da34f4b85c0f442a02dac9
sio:SIO_000628
miriam-gene:3988
,
lld:C0043208
;
a
sio:SIO_001121
.
}
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_provenance
{
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_assertion
dcterms:description
"[Mutations in the LAL gene (LIPA) result in accumulation of triglycerides and cholesterol esters in various tissues of the body, leading to pathological conditions such as Wolman's disease (WD) and cholesteryl ester storage disease (CESD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:25620107
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP1258301.RAMqX_3TFrqQa_wlGfzXxh_QEkuKAfseihY73hldUB25Y130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:16+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}